Optical coherence tomography - A possible biomarker in early huntington's disease.

Objective: To assess the role of spectral domain Optical Coherence Tomography (OCT) as a biomarker in Huntington's disease (HD).

Methods: This cross-sectional study compared spectral domain OCT data, cognitive function, and olfactory function in HD patients and healthy controls (HC). HD patients were classified into Stage1 and Stage2 based on motor symptoms and functional capacity.

Risk stratification for disease reactivation after therapy de-escalation/discontinuation in relapsing multiple sclerosis by the VIAADISC score.

Objective: To investigate whether the VIAADISC score predicts disease reactivation in relapsing multiple sclerosis (RMS) after de-escalation/discontinuation of disease-modifying-therapy (DMT) METHODS: We included RMS patients who i) received any DMT other than interferon-beta or glatiramer-acetate ≥12 months, ii) de-escalated/discontinued DMT, iii) had MRI before de-escalation/discontinuation, and iv) had ≥12 months of follow-up. VIAADISC score (0-6; age <45/45-54/≥55 = 2/1/0 points, MRI activity = 2 points, duration without clinical disease activity <4/4-8/>8 years = 2/1/0 points) was calculated. The primary endpoint was disease reactivation (relapse and/or disability progression).

Serum neurofilament light chain and glial fibrillary acidic protein levels are associated with inner retinal layer thinning in multiple sclerosis.

Background: Serum neurofilament light chain (sNfL) and glial fibrillary acidic protein (GFAP) are emerging biomarkers of axonal damage and astrocytic activation. The value of sNfL and GFAP in predicting retinal layer thinning remains underexplored.

Objectives: To evaluate the association between sNfL and GFAP levels and retinal layer thinning.

High erythropoietin levels are associated with low neurofilament light levels in simulated high altitude: a further hint for neuroprotection by erythropoietin.

Background: Erythropoietin (EPO) plays a crucial role in the early adaption to high altitude and is possibly involved in neuroprotection. Neurofilament light chain (NfL) is an established marker of neuroaxonal damage.

Objective: To investigate whether EPO dynamics in simulated high altitude are linked to neuroaxonal damage as measured by NfL.

Kappa Free Light Chain Index and Oligoclonal Bands in Varicella Zoster Virus Infection and Neuroborreliosis: A Matter of Timing?

Background: The diagnosis of Varicella-zoster virus related neurological disease (VZD) and Lyme neuroborreliosis (LNB) is based on clinical presentation as well as cerebrospinal fluid (CSF) results.

Objectives: To evaluate and compare the diagnostic utility of oligoclonal bands (OCB) and the κ-free light chain (FLC) index in patients with VZD and LNB.

Methods: Patients with the diagnosis of VZD or LNB at the Department of Neurology of the Medical University of Innsbruck between 2008 to 2020 were included.

The rs10191329 Risk Allele Is Associated With Pronounced Retinal Layer Atrophy in Multiple Sclerosis.

Objective: To investigate whether the rs10191329 risk allele in the DYSF-ZNF638 locus, which is implicated in central nervous system resilience rather than immune-mediated pathology, is associated with retinal layer thinning, a biomarker of neuroaxonal damage in relapsing multiple sclerosis (RMS).

Methods: From a prospective observational study, we included RMS patients with ≥ 2 optical coherence tomography (OCT) scans, excluding eyes with optic neuritis during the observation period. DNA samples were genotyped using the Illumina Infinium Global Screening Array-24 and variants imputed using the Haplotype Reference Consortium panel and Minimac4.

Early identification of individuals at risk for multiple sclerosis by quantification of EBNA-1-specific antibody titers.

Multiple sclerosis (MS) is an immune-mediated demyelinating disease. Epstein-Barr virus (EBV) encodes for the EBNA-1 region that induces autoreactive antibody responses, which are likely critically involved in MS pathogenesis. Here we investigate whether these EBNA-1-specific antibodies can serve as a biomarker to identify at-risk individuals for MS.

Signs of Intracranial Hypertension in Chronic Inflammatory Polyradiculoneuropathies-A Cross Sectional Cohort Study.

Introduction: Inflammatory polyradiculoneuropathy (IPN) has been associated with intracranial hypertension (IH) in various case reports, suggesting a potential link between the two conditions. However, the prevalence of IH in patients with IPN has not been addressed by prospective studies.

Methods: In this cross-sectional prospective study, we prospectively screened consecutive patients with chronic IPN for the presence of clinical and paraclinical signs of IH (fundoscopy, perimetry, optical coherence tomography, ultrasonography) between August 31, 2021, and December 31, 2023.

Kappa free light chain index predicts long-term disease activity and disability accrual in multiple sclerosis.

Background: The prognostic value of κ-free light chain (κ-FLC) index over the long term is unknown.

Objectives: The objective of the study was to determine whether κ-FLC index determined at disease onset predicts relapse activity and disability accrual during long-term follow-up.

Methods: Patients with a first demyelinating event of the central nervous system who had cerebrospinal fluid and serum sampling were eligible for inclusion.

Effect of long-term frozen storage on stability of kappa free light chain index.

Objectives: To investigate whether frozen storage duration influences κ-FLC index.

Methods: CSF and serum samples of patients with multiple sclerosis collected for routine diagnostic purposes had been stored at -20 °C. κ-FLC and albumin concentrations were measured at two different timepoints, i.

Biomarkers of Progression Independent of Relapse Activity-Can We Actually Measure It Yet?

Progression independent of relapse activity (PIRA) is increasingly recognized as a key driver of disability in multiple sclerosis (MS). However, the concept of PIRA remains elusive, with uncertainty surrounding its definition, underlying mechanisms, and methods of quantification. This review examines the current landscape of biomarkers used to predict and measure PIRA, focusing on clinical, imaging, and body fluid biomarkers.

Short-Term Risk Factors for Bone Loss in Multiple Sclerosis: A Prospective Study and Literature Review.

Background: Reduced bone mass and increased osteoporosis risk are common in people with multiple sclerosis (pwMS). The aim of the study was to identify risk factors for short-term bone loss in MS.

Methods: This prospective study included 139 pwMS (ages 18-65).

Clinical characteristics and outcome of double-AQP4/MOG-seronegative and not MS-associated monophasic and relapsing demyelinating transverse myelitis: A monocenter study.

Background: Demyelinating acute transverse myelitis (ATM) may occur as part of the clinical presentation in multiple sclerosis (MS) as well as neuromyelitis optica spectrum disorder (NMOSD) and myelin-oligodendrocyte-glycoprotein antibody associated disease (MOGAD). However, some patients with demyelinating ATM do not fulfill diagnostic criteria of MS, NMOSD or MOGAD and some of these even experience more than one spinal relapse. As double-AQP4/MOG-seronegative demyelinating ATM (DSD-ATM) is poorly investigated so far and treatment recommendations for these patients are lacking, we aimed to investigate clinical features and outcome of these patients.

Diagnostic accuracy of inter-eye difference of ganglion cell layer alone in identifying optic neuritis in multiple sclerosis.

Introduction: The 2024 McDonald criteria for diagnosing multiple sclerosis (MS) include optic nerve involvement as a fifth region for establishing dissemination in space. Optic neuritis (ON) can be detected through optical coherence tomography (OCT) using an inter-eye absolute or percentage difference (IEAD, IEPD) in ganglion cell-inner plexiform layer (GCIPL) thickness.

Objective: To compare the diagnostic accuracy of GCIPL IEAD/IEPD with GCL and IPL IEAD/IEPD alone for identifying a history of ON.

Impact of renal function impairment on kappa free light chain index.

Objectives: To investigate whether renal function impacts CSF κ-FLC concentration and/or κ-FLC index.

Methods: Patients with non-inflammatory neurological diseases were eligible. κ-FLC index was calculated as (CSF κ-FLC/serum κ-FLC)/albumin quotient.

Reactive Pleocytosis After Repeated Lumbar Puncture-Implications for Clinical Practice.

Introduction: Lumbar puncture (LP) is a routine clinical procedure and, in some cases, is repeatedly performed for diagnostic or therapeutic reasons. The impact of repeated LP on cerebrospinal fluid (CSF) findings is not clear.

Objective: To investigate whether repeated LP is associated with reactive pleocytosis and disruption of blood-CSF barrier function and to determine the role of interval between repeated LP.

Antiplatelet therapy is not associated with increased risk of complications after lumbar puncture.

Background: Lumbar puncture (LP) is a critical diagnostic procedure in the evaluation of neurological diseases. Although considered safe, complications such as post-dural puncture headache (PDPH), back pain, subdural hematoma or venous sinus thrombosis may still occur. Whether the use of antiplatelet therapy (APT) increases the risk of complications after LP, remains unclear.

De-escalating and discontinuing disease-modifying therapies in multiple sclerosis.

The development of disease-modifying therapies (DMTs) for the treatment of multiple sclerosis (MS) has been highly successful in recent decades. It is now widely accepted that early initiation of DMTs after disease onset is associated with a better long-term prognosis. However, the question of when and how to de-escalate or discontinue DMTs remains open and critical.

Retinal thinning differentiates treatment effects in relapsing multiple sclerosis below the clinical threshold.

Objective: To investigate retinal layer thinning as a biomarker of disease-modifying treatment (DMT) effects in relapsing multiple sclerosis (RMS).

Methods: From an ongoing prospective observational study, we included patients with RMS, who (i) had an optical coherence tomography (OCT) scan within 6 to 12 months after DMT start (rebaseline) and ≥1 follow-up OCT ≥12 months after rebaseline and (ii) adhered to DMT during follow-up. Differences between DMT in thinning of peripapillary-retinal-nerve-fiber-layer (pRNFL) and macular ganglion cell-plus-inner plexiform-layer (GCIPL) were analyzed using mixed-effects linear regression.

Switching from natalizumab to antiCD20 monoclonal antibodies: Short transition interval is associated with improved outcome.

Objective: To investigate the impact of transition interval length when switching from natalizumab (NTZ) to anti-CD20 monoclonal antibodies (antiCD20) on recurrent disease activity and safety in relapsing multiple sclerosis (RMS).

Methods: Aggregating data from 8 MS centres in Austria, Switzerland, and Germany, we included RMS patients who (i) continuously received NTZ for ≥3 months, (ii) were switched to antiCD20, and (iii) had ≥12 months follow-up after switch. The primary endpoint was occurrence of relapse after switch, secondary endpoints included severe infections (CTCAE grade ≥3).

Disability progression is a question of definition-A methodological reappraisal by example of primary progressive multiple sclerosis.

Background: Different definitions of disability progression by Expanded Disability Status Scale (EDSS) may influence frequency and/or time to event.

Methods: In this multicenter cohort study, we included PPMS patients with follow-up ≥24 months and ≥3 available EDSS scores overall (≥1 per year). We applied 672 definitions of disability progression including different minimal EDSS increase, required confirmation and fixed/roving-baseline score.

Neurofilament Light Chain Is Associated With Acute Mountain Sickness.

Background: Neurological symptoms are common in acute mountain sickness (AMS); however, the extent of neuroaxonal damage remains unclear. Neurofilament light chain (NfL) is an established blood biomarker for neuroaxonal damage.

Objective: To investigate whether plasma (p) NfL levels increase after simulated altitude exposure, correlate with the occurrence of AMS, and might be mitigated by preacclimatization.